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6 OMIM references -
9 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 associated gene
No signs/symptoms info
Isolated CoQ-cytochrome C reductase deficiency
SURF1-related Charcot-Marie-Tooth disease type 4

BCS1L SURF1
CYC1
LYRM7
MT-CYB
TTC19
UQCC2
UQCRB
UQCRC2
UQCRQ


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CYC1
(0.49)
SURF1



Citations in the biomedical literature:


Isolated CoQ-cytochrome C reductase deficiency
BCS1L CYC1 LYRM7 MT-CYB TTC19 UQCC2
UQCRB UQCRC2 UQCRQ
SURF1-related Charcot-Marie-Tooth disease type 4
SURF1



Isolated CoQ-cytochrome C reductase deficiency
SURF1-related Charcot-Marie-Tooth disease type 4

Synonym(s):
- Isolated coenzyme Q-cytochrome C reductase deficiency
- Isolated mitochondrial respiratory chain complex III deficiency
- Isolated ubiquinone-cytochrome C reductase deficiency

Synonym(s):
- CMT4K
- Charcot-Marie-Tooth disease type 4K
- SURF1-related CMT4
- SURF1-related severe demyelinating Charcot-Marie-Tooth disease

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive

External references:
6 OMIM references -
No MeSH references
External references:
No OMIM references
No MeSH references

No signs/symptoms info available.